{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658808505",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 324,
          "referenceAllele": "D",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NP_055178.3:p.Asp324Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6911995",
          "hgvs": "NM_014363.6:c.972C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA387550632",
          "hgvs": "NM_014363.6:c.972C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173652"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=527768[alleleid]",
        "alleleId": 527768,
        "preferredName": "NM_014363.6(SACS):c.972C>A (p.Asp324Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/528018",
        "RCV": [
          "RCV000676374",
          "RCV001083526",
          "RCV001112022",
          "RCV003935762"
        ],
        "variationId": 528018
      }
    ]
  },
  "type": "amino-acid"
}